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Select item 108746341.

Glycogen storage disease type I: Genetic etiology, clinical manifestations, and conventional and gene therapies

Jiamin Zhong, Yannian Gou, Piao Zhao, Xiangyu Dong, Meichun Guo, Aohua Li, Ailing Hao, Hue H. Luu, Tong-Chuan He, Russell R. Reid, Jiaming Fan

Pediatr Discov. Author manuscript; available in PMC 2024 Feb 18.

Published in final edited form as: Pediatr Discov. 2023; 1(2): e3. Published online 2023 Jul 24. doi: 10.1002/pdi3.3

PMCID:: PMC10874634

Article PDF–780K

Select item 108587292.

Euglycemic Diabetic Ketoacidosis Presenting as Hypoglycemia in a Patient With Type 2 Diabetes and Von Gierke’s Disease

Emmanuel Tito, Akshaya Ramaswami, Ron Milbocker, Darwin Edmond

Cureus. 2024 Jan; 16(1): e52104. Published online 2024 Jan 11. doi: 10.7759/cureus.52104

PMCID:: PMC10858729

Article PDF–288K

Select item 106408963.

Glycogen Storage Disease Type I With Hypercalcemia in an Infant: A Case Report

Aziza Elouali, Chaimae N'joumi, Amal Bennani, Maria Rkain, Abdeladim Babakhouya

Cureus. 2023 Oct; 15(10): e46987. Published online 2023 Oct 13. doi: 10.7759/cureus.46987

PMCID:: PMC10640896

Article PDF–1.6M

Select item 105080214.

From common to rare: repurposing of bempedoic acid for the treatment of glycogen storage disease type 1

Anibh M. Das

Genes Nutr. 2023; 18: 15. Published online 2023 Sep 18. doi: 10.1186/s12263-023-00733-2

PMCID:: PMC10508021

Article PDF–775K

Select item 102778305.

Von Gierke Disease (Glycogen Storage Disease Type I) and Life-Threatening Abdominal Aortic Aneurysm: A Case Report of an Extremely Rare Condition

Apostolos G. Pitoulias, Nizar Abu Bakr, Majid Kazemtash, Firouza Dahi, Michael Schütz, Konstantinos P. Donas

Vasc Specialist Int. 2023; 39: 14. Published online 2023 Jun 19. doi: 10.5758/vsi.230017

PMCID:: PMC10277830

Article PDF–1.6M

Select item 101457286.

CT findings of glycogen storage disease I complicated with pancreatitis: A case report

Shuo Chen, Feng Chen, Fei Cheng, Xiao Xu

Medicine (Baltimore) 2023 Apr 25; 102(17): e33668. Published online 2023 Apr 25. doi: 10.1097/MD.0000000000033668

PMCID:: PMC10145728

Article PDF–643K

Select item 96193097.

Fluorodeoxyglucose-positron emission tomography as a potential alternative tool for functional diagnosis of glycogen storage disease type I

Takeshi Sato, Mikako Inokuchi, Satsuki Nakano, Yu Iwabuchi, Tetsu Hayashida, Tomohiro Ishii, Tomonobu Hasegawa

Radiol Case Rep. 2023 Jan; 18(1): 91–93. Published online 2022 Oct 28. doi: 10.1016/j.radcr.2022.09.084

PMCID:: PMC9619309

Article PDF–595K

Select item 92991908.

Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I

Tamara Mathis, Martin Poms, Harald Köfeler, Matthias Gautschi, Barbara Plecko, Matthias R. Baumgartner, Michel Hochuli

J Inherit Metab Dis. 2022 Mar; 45(2): 235–247. Published online 2021 Nov 10. doi: 10.1002/jimd.12451

PMCID:: PMC9299190

Article PDF–1.8M

Select item 89472149.

Cellular and metabolic effects of renin-angiotensin system blockade on glycogen storage disease type I nephropathy

Laure Monteillet, Philippe Labrune, Michel Hochuli, Jeremy Do Cao, Antonin Tortereau, Alexane Cannella Miliano, Carine Ardon-Zitoun, Adeline Duchampt, Marine Silva, Vincent Verzieux, Gilles Mithieux, Fabienne Rajas

Hum Mol Genet. 2022 Mar 15; 31(6): 914–928. Published online 2021 Oct 7. doi: 10.1093/hmg/ddab297

PMCID:: PMC8947214

Article PDF–1.9M

Select item 841484910.

Impact of glycogen storage disease type I on adult daily life: a survey

Sven F. Garbade, Viviane Ederer, Peter Burgard, Udo Wendel, Ute Spiekerkoetter, Dorothea Haas, Sarah C. Grünert

Orphanet J Rare Dis. 2021; 16: 371. Published online 2021 Sep 3. doi: 10.1186/s13023-021-02006-w

PMCID:: PMC8414849

Article PDF–1.0M

Select item 787554311.

ANTHROPOMETRIC AND DIETARY ASSESSMENT OF PATIENTS WITH GLYCOGENOSIS TYPE I

Natália Bauab Jorge, Adriana Maria Alves de Tommaso, Gabriel Hessel

Rev Paul Pediatr. 2021; 39: e2020046. Published online 2021 Feb 5. doi: 10.1590/1984-0462/2021/39/2020046

PMCID:: PMC7875543

Article PDF–310K

Select item 785263212.

"Bull’s eye” appearance of hepatocellular adenomas in patients with glycogen storage disease type I — atypical magnetic resonance imaging findings: Two case reports

Federica Vernuccio, Stephanie Austin, Mathias Meyer, Cynthia D Guy, Priya S Kishnani, Daniele Marin

World J Clin Cases. 2021 Feb 6; 9(4): 871–877. Published online 2021 Feb 6. doi: 10.12998/wjcc.v9.i4.871

PMCID:: PMC7852632

Article PDF–1.4M

Select item 751837413.

Kidney and Metabolic Phenotypes in Glycogen Storage Disease Type-I Patients

Bilal Aoun, Sami Sanjad, Jad A. Degheili, Abir Barhoumi, Amina Bassyouni, Pascale E. Karam

Front Pediatr. 2020; 8: 591. Published online 2020 Sep 11. doi: 10.3389/fped.2020.00591

PMCID:: PMC7518374

Article PDF–182K

Select item 724095914.

Proteobacteria Overgrowth and Butyrate-Producing Taxa Depletion in the Gut Microbiota of Glycogen Storage Disease Type 1 Patients

Camilla Ceccarani, Giulia Bassanini, Chiara Montanari, Maria Cristina Casiraghi, Emerenziana Ottaviano, Giulia Morace, Giacomo Biasucci, Sabrina Paci, Elisa Borghi, Elvira Verduci

Metabolites. 2020 Apr; 10(4): 133. Published online 2020 Mar 30. doi: 10.3390/metabo10040133

PMCID:: PMC7240959

Article PDF–1.7M

Select item 716901615.

Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement

Alessandro Rossi, Chiara Simeoli, Mariacarolina Salerno, Rosario Ferrigno, Roberto Della Casa, Annamaria Colao, Pietro Strisciuglio, Giancarlo Parenti, Rosario Pivonello, Daniela Melis

Orphanet J Rare Dis. 2020; 15: 99. Published online 2020 Apr 19. doi: 10.1186/s13023-020-01377-w